Homo sapiens Protein: KCND3 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-101106.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | KCND3 | ||||||||||||||||||||||
Protein Name | potassium voltage-gated channel, Shal-related subfamily, member 3 | ||||||||||||||||||||||
Synonyms | KCND3L; KCND3S; KSHIVB; KV4.3; SCA19; SCA22; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000306923 | ||||||||||||||||||||||
InnateDB Gene | IDBG-101100 (KCND3) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits. {ECO:0000269PubMed:10200233, ECO:0000269PubMed:9843794}. | ||||||||||||||||||||||
Subcellular Localization | Membrane; Multi-pass membrane protein. Cell membrane, sarcolemma {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | Spinocerebellar ataxia 19 (SCA19) [MIM:607346]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis. {ECO:0000269PubMed:23280837, ECO:0000269PubMed:23280838}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=KCND3 rare variants may confer risk for lethal ventricular arrhytmias and be associated with autopsy-negative sudden unexplained death syndrome (SUDS). | ||||||||||||||||||||||
Tissue Specificity | Highly expressed in heart and brain, in particular in cortex, cerebellum, amygdala and caudate nucleus. Detected at lower levels in liver, skeletal muscle, kidney and pancreas. Isoform 1 predominates in most tissues. Isoform 1 and isoform 2 are detected at similar levels in brain, skeletal muscle and pancreas. {ECO:0000269PubMed:10200233, ECO:0000269PubMed:10729221, ECO:0000269PubMed:9843794}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000210
BTB/POZ-like IPR003091 Potassium channel IPR003131 Potassium channel tetramerisation-type BTB domain IPR003968 Potassium channel, voltage dependent, Kv IPR003971 Potassium channel, voltage dependent, Kv9 IPR003974 Potassium channel, voltage dependent, Kv3 IPR003975 Potassium channel, voltage dependent, Kv4 IPR004056 Potassium channel, voltage dependent, Kv4.3 IPR005821 Ion transport domain IPR011333 BTB/POZ fold IPR013099 Two pore domain potassium channel domain IPR021645 Shal-type voltage-gated potassium channels IPR024587 Potassium channel, voltage dependent, Kv4, C-terminal |
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PFAM |
PF02214
PF00520 PF07885 PF11601 PF11879 |
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PRINTS |
PR00169
PR01491 PR01494 PR01498 PR01497 PR01518 |
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PIRSF | |||||||||||||||||||||||
SMART |
SM00225
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9UK17 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9UK17 | ||||||||||||||||||||||
TrEMBL | A0A024R0C6 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 3752 | ||||||||||||||||||||||
UniGene | Hs.731722 | ||||||||||||||||||||||
RefSeq | NP_751948 | ||||||||||||||||||||||
HUGO | HGNC:6239 | ||||||||||||||||||||||
OMIM | 605411 | ||||||||||||||||||||||
CCDS | CCDS844 | ||||||||||||||||||||||
HPRD | 16104 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF048712 AF048713 AF120491 AF166009 AF166010 AF166011 AF187963 AF187964 AF205856 AF205857 AL049557 AL450997 AL512665 BC113475 BC113477 CH471122 | ||||||||||||||||||||||
GenPept | AAC05121 AAC05122 AAD38898 AAF01044 AAF01045 AAF20924 AAF20925 AAF68177 AAF68178 AAI13476 AAI13478 CAI16956 CAI19096 CAI22711 EAW56511 EAW56512 | ||||||||||||||||||||||